LAUSR

High penetrance of myeloid neoplasia with diverse clinical and cytogenetic features in three siblings with a familial GATA2 deficiency.

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0 Published in 2021 at "Cancer genetics"

DOI: 10.1016/j.cancergen.2021.04.002

Abstract: Pathogenic germ-line variants in GATA2 (GATA2-deficiency) can cause childhood myelodysplastic syndrome (MDS) and acute myeloid leukaemia (AML), and can be associated with distinct clinical syndromic features. However, penetrance and genotype-phenotype correlations are incompletely understood. Here… read more here.

Keywords: deficiency; features three; gata2 deficiency; myeloid ... See more keywords